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Links from Gene

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNU5A-1
Deletion
(non-coding transcript variant)
RNU5A-1-associated neurodevelopmental disorder
GUncertain significance
RNU5A-1
Insertion
(non-coding transcript variant)
RNU5A-1-associated neurodevelopmental disorder
GUncertain significance
CILP, CLPX
+3 more
Copy number gain
not provided
GUncertain significance
ANKDD1A, CILP
+16 more
Copy number gain
not specified
GUncertain significance
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
RNU5A-1, SLC51B
+12 more
Copy number gain
not provided
GUncertain significance
RASL12, RNU5A-1
+12 more
Copy number gain
not provided
GUncertain significance
ANKDD1A, APH1B
+40 more
Deletion
Nemaline myopathy 6
GLikely pathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
ANKDD1A, CILP
+97 more
Copy number gain
See cases
GPathogenic
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